View transcript #00000035

Transcript name transcript variant 1
Gene name TSC1 (tuberous sclerosis 1)
Chromosome 9
Transcript - NCBI ID NM_000368.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_000359.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

6 entries on 1 page. Showing entries 1 - 6.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     
?/? 11 c.1139C>T p.(Thr380Ile) Hetero no r.(?)
?/? 16i c.2042-5A>G p.? Hetero no r.spl?
-/- 20i c.2626-5_2626-4dupTT p.? Hetero TSC1 r.?
+/. 21 c.2652delT p.(Arg885Glyfs*4) Hetero N/A r.(?)
-/- 22 c.2829C>T p.(=) Hetero no r.(=)
-/-? 23 c.3324C>T p.(=) Hetero no r.(=)
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